Juvenile onset acid maltase deficiency presenting as a rigid spine syndrome
| Autor: | Agnieszka Ługowska, Anna Kostera-Pruszczyk, Jacek Bojakowski, Andrzej Opuchlik, Aleksandra Nadaj, Anna Kamińska, Anna Tylki-Szymańska |
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| Rok vydání: | 2005 |
| Předmět: |
Male
Pathology medicine.medical_specialty Proximal muscle weakness Adolescent Biopsy RIGID SPINE SYNDROME Biology Compound heterozygosity medicine Maltase deficiency Humans Respiratory system Myopathy Genetics (clinical) Muscle biopsy Muscle Weakness medicine.diagnostic_test Glycogen Storage Disease Type II Muscles alpha-Glucosidases Anatomy Syndrome Spine Juvenile onset Neurology Pediatrics Perinatology and Child Health Mutation Spinal Diseases Neurology (clinical) medicine.symptom |
| Zdroj: | Neuromuscular disorders : NMD. 16(4) |
| ISSN: | 0960-8966 |
| Popis: | The rigid spine syndrome is a disorder characterized by proximal muscle weakness and limitation in flexion of the cervical and dorsolumbar spine. Such phenotype may be caused by a variety of hereditary myopathies. We present the case of a 15-years-old boy with rigid spine syndrome and severe restrictive respiratory changes. Muscle biopsy revealed vacuolar myopathy with excessive deposition of PAS-positive material. Lysosomal acid maltase activity in cultured skin fibroblasts was reduced to 6% of control values. DNA analysis demonstrated novel mutation E888X of acid α-glucosidase gene with compound heterozygosity IVS1/E888X, confirming diagnosis of Pompe disease. We conclude that acid maltase deficiency should be considered in the diagnosis of rigid spine syndrome. |
| Databáze: | OpenAIRE |
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